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Open Accesshttps://doi.org/10.1136/jmedgenet-2019-106373
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Oct 5, 2019 |
 Citations: 31 |  License type: open-access |
Affiliation: Institut d'Investigació Biomédica de Bellvitge, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Universidad de Sevilla, Bellvitge University Hospital, Hospital Sant Joan de Déu Barcelona, Sant Joan de Déu Research FoundationBackgroundSince 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K+ channel subunit Kv1.1. All of...
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